Varaico: Literature-Extracted Genetic Variants

Gene:FGD5
Variant:p.D43E

FGD5

122 papers

Pfam Domains

RhoGEFaa 896–1082UCSCRhoGEF domain
PHaa 1114–1207UCSCPH domain
FYVEaa 1238–1302UCSCFYVE zinc finger
PHaa 1365–1461UCSCPH domain

Gene Aliases

HGNC Name

FYVE, RhoGEF and PH domain containing 5

HGNC Alias Symbols

ZFYVE23; FLJ39957; FLJ00274

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152536.4
p.D43E
c.129C>G
Surrounding Variants
2 papers
NM_152536.4
p.D43E
c.129C>A
1 paper
NM_152536.4
p.L46fs
c.136_137fs
1 paper
NM_152536.4
p.L46delFs
c.137delT
1 paper
NM_152536.4
p.R38Q
c.113G>A
1 paper
NM_152536.4
p.R38P
c.113G>C
1 paper
NM_152536.4
p.R38W
c.112C>T
1 paper
NM_152536.4
p.N36S
c.107A>G
1 paper
NM_152536.4
p.P69L
c.206C>T
1 paper
NM_152536.4
p.G85G
c.255G>C
1 paper
NM_152536.4
p.A88V
c.263C>T
1 paper
NM_152536.4
p.P92S
c.274C>T
1 paper
NM_152536.4
p.R102C
c.304C>T
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